A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12869015



Internal ID2870831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82191369..82198657hg38UCSC Ensembl
Innerchr7:82191412..82198615hg38UCSC Ensembl
Outerchr7:82191327..82198700hg38UCSC Ensembl
chr7:81820685..81827973hg19UCSC Ensembl
Innerchr7:81820728..81827931hg19UCSC Ensembl
Outerchr7:81820643..81828016hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg387289
hg197289
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613900
Supporting Variants
SamplesHG02589
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12869015
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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